What is it?
Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder characterized by extremely elevated levels of low-density lipoprotein cholesterol (LDL-C) in the blood, accelerated atherosclerotic cardiovascular disease, and resistance to standard lipid-lowering therapy. It is inherited in an autosomal recessive manner, meaning that individuals need to inherit two copies of the mutated gene to develop the condition. HoFH affects approximately 1 in 160,000 to 1 million individuals worldwide.
What are its symptoms?
Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder characterized by extremely elevated levels of low-density lipoprotein cholesterol (LDL-C) in the blood, accelerated atherosclerotic cardiovascular disease, and resistance to standard lipid-lowering therapy. It is inherited in an autosomal recessive manner, meaning that individuals need to inherit two copies of the mutated gene to develop the condition. HoFH affects approximately 1 in 160,000 to 1 million individuals worldwide.
What do I need to consider?
Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder characterized by extremely elevated levels of low-density lipoprotein cholesterol (LDL-C) in the blood, accelerated atherosclerotic cardiovascular disease, and resistance to standard lipid-lowering therapy. It is inherited in an autosomal recessive manner, meaning that individuals need to inherit two copies of the mutated gene to develop the condition. HoFH affects approximately 1 in 160,000 to 1 million individuals worldwide.
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References
- Cuchel M. et al. (2014). Genetics of homozygous familial hypercholesterolemia. Current Atherosclerosis Reports, 16(9), 439.
- Tromp, T. R. et al. (2022). Worldwide experience of homozygous familial hypercholesterolaemia. The Lancet, 399(10306), 763-774.